Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the skeletal system (HP:0000924)help
Parent Node:
expand
Abnormal intervertebral disk morphology (HP:0005108)help
Parent Node:
expand
Ectopic calcification (HP:0010766)help
..Starting node
..expand
Intervertebral disk calcification (HP:0005645)help
Term ID: 5645
Name: Intervertebral disk calcification
Synonym: Intervertebral disc calcification; Multiple intervertebral disc calcifications; Multiple intervertebral disk calcifications
Definition: The presence of abnormal calcium deposition of the intervertebral disk.
Comments:
Reference: HP:0005645
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal calcification of the carpal bones (HP:0009164) help
..expandAdrenal calcification (HP:0010512) help
..expandCalcific stippling (HP:0002832) help
..expandCalcification of cartilage (HP:0100593) help
..expandCalcification of muscles (HP:0100249) help
..expandCalcification of ribs (HP:0040059) help
..expandCalcinosis cutis (HP:0025520) help
..expandCardiovascular calcification (HP:0011915) help
..expandCerebellar calcifications (HP:0007352) help
..expandCerebral calcification (HP:0002514) help
..expandChondrocalcinosis (HP:0000934) help
..expandEpiphyseal stippling (HP:0010655) help
..expandGingival calcification (HP:0025141) help
..expandGonadal calcification (HP:0008703) help
..expandHepatic calcification (HP:0006559) help
..expandIntraalveolar nodular calcifications (HP:0006514) help
..expandLaryngeal calcification (HP:0008754) help
..expandPancreatic calcification (HP:0005213) help
..expandPeriarticular calcification (HP:0025477) help
..expandPunctate vertebral calcifications (HP:0008420) help
..expandRetinal calcification (HP:0007862) help
..expandSternal punctate calcifications (HP:0006637) help
..expandSubcutaneous calcification (HP:0007618) help
..expandTarsal stippling (HP:0008131) help
..expandTracheal calcification (HP:0002787) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005645HP:0005645Intervertebral disk calcification0COL9A1 CL E G H12972217OMIM:614135Epiphyseal dysplasia, multiple, 6110
HP:0005645HP:0005645Intervertebral disk calcification0HGD CL E G H30814892ORPHA:56AlkaptonuriaHP:0040281 - Very frequent77
HP:0005645HP:0005645Intervertebral disk calcification0NT5E CL E G H49078021OMIM:211800Calcification of joints and arteries3


Genes (3) :COL9A1 HGD NT5E

Diseases (3) :OMIM:614135 ORPHA:56 OMIM:211800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.